Severe microcephaly
Gene: PHC1
As discussed with the GMS Neurology Specialist Test Group webex call 11thJuly 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Possible DD-G2P gene for Primary microcephaly, MIM:615414.Created: 27 Feb 2017, 4:05 p.m.
Single case: Awad et al., 2013 (PMID:23418308) report a homozygous 2974C>T mutation (L992F) in the PHC1 gene in a 12-year-old girl and her 6-year-old brother born to related Saudi parents who were suffering from primary microcephaly.Created: 27 Feb 2017, 4:05 p.m.
PHC1 is on the Expert list for MCPH (primary microcephaly) from Andrew Jackson but with the caution that only a single mutation or family is reported in the literature.Created: 13 Dec 2016, 12:12 p.m.
Source NHS GMS was added to PHC1.
2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
PHC1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Expert list
PHC1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene PHC1 was set to BIALLELIC, autosomal or pseudoautosomal
PHC1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature
PHC1 was created by rfoulger